Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese.     

Differences in plans for living at home between temporary residents of a health-care facility for the elderly and their family caregivers in Japan

Aim: Older residents in Japan requiring rehabilitation often reside in health‐care facilities for the elderly (HCFE) prior to being discharged to home. The return home can be very stressful for both the elder and family caregiver. The purpose of this study was to clarify the differences in plans for home life between the residents of a HCFE who were scheduled for discharge home and their family caregivers. Method: Semistructured interviews were conducted with eight pairs of elders and caregivers. Results: Differences were seen in several areas, including dietary preferences, recognition of the elder’s independence, preconceptions or not knowing about the elder’s pleasurable activities, and the way of care. Conclusions: Differences with regard to enjoyable activities for the elderly arose from a lack of understanding of the lives of the elderly on the part of their families.     

Spontaneous Uterine Venous Rupture During Labour: A Case Report With Postoperative Ultrasonographic Findings

EDITORIAL COMMENT: We accepted this case for publication to remind readers that although uterine rupture during labour in a primigravida is extremely uncommon it does occur, or at any rate nulliparas can develop abdominal pain and shock in labour with a haemoperitoneum resulting from a tear in a vein in the lower posterior uterine wall. When one sees the hugely dilated uterine and ovarian venous plexuses at Caesarean section it is easy to believe that bleeding from such a vessel during labour could be prodigious. This case suggests that a dilated vein with blood flow derangements may be the cause. Nonetheless, as the authors warn us, the necessary response is not a precise diagnosis, but rapid laparotomy. See also Editorial Comment to Chin MMS, Harvey JA, Duffy BL. Uterine rupture during labour in a primigravida. Aust NZ J Obstet Gynaecol 1996; 36: 210.     

Beta2-glycoprotein I-dependent anticardiolipin antibody in early recurrent spontaneous abortion

The objective of this study was to assess the clinical significance of autoimmune anticardiolipin antibody that can react with cardiolipin only in the presence of beta2-glycoprotein I (beta2-glycoprotein I- dependent anticardiolipin antibody) in the pathogenesis of early recurrent abortion. A total of 72 early recurrent spontaneous aborters and 175 normal healthy women were analysed for the occurrence of beta2- glycoprotein I-dependent anticardiolipin antibody in serum samples by an enzyme-linked immunosorbent assay specific for the detection of beta2-glycoprotein I-dependent anticardiolipin antibody. The incidence of beta2-glycoprotein I-dependent anticardiolipin antibody in the early recurrent spontaneous aborters was essentially the same as that of normal women. Thus, the beta2-glycoprotein I-dependent anticardiolipin antibody seemed to have little, if any, implication in the pathogenesis of early recurrent spontaneous abortion.      

Approach to early diagnosis of acute mesenteric ischemia: evaluation in canine model

The high mortality rate of patients with acute mesenteric ischemia may be mainly due to the difficulty of making an early diagnosis. Many clinical and experimental studies have been attempted to make an early diagnosis in the view of history, physical examination, laboratory data, X-rays and angiographies. This study was undertaken to estimate the diagnostic value of twenty one laboratory parameters and three clinical parameters measured after superior mesenteric artery occlusion (SMAO) in the mongrel dogs. Consequently, the valuable diagnostic indicators of SMAO that statistically had significant difference were serum CPK isoenzyme-BB, serum CPK isoenzyme-MB, serum inorganic phosphate, serum calcium and base excess of arterial blood gas analysis. In these indicators, serum CPK isoenzyme-BB, serum inorganic phosphate and serum calcium were especially valuable indicators of its early diagnosis, because they showed significant change in the early phase after SMAO. However, other indicators showed significant change within eighteen hours after SMAO. Therefore, if these indicators are able to be examined in a case of abdominal emergency, they are considered to play a valuable role in the diagnosis of acute mesenteric ischemia.     

Ultrasonographic study on kidneys in patients with acute renal failure]

Ultrasonotomograms of 22 kidneys were obtained in 11 patients with renal-acute renal failure (renal-ARF). The underlying diseases of renal-ARF were acute tubular necrosis in 8 patients and acute on-set chronic glomerulonephritis in 3 patients. They were treated by hemodialysis in 10 patients and intermittent peritoneal dialysis in 1 patient. Ultrasonic measurement of the size of kidneys revealed that the thickness (anterior-posterior diameter) and the ratio of thickness to length (T/L) were greater in patients with ARF than in those with chronic renal failure and normal renal function. The patients with a low value of T/L (under 0.60) had a significantly greater urine volume than those with high a value of T/L (0.60 or more). The sonographic features of renal-ARF kidneys were marked increase in parenchymal echogenicity and appearance of hypoechoic swollen renal pyramids with sharpness of the corticomedullary border. In the course of ARF, these sonographic changes gradually disappeared when the patients had recovered from ARF. However, the prognosis was poor in patients with severer sonographic findings. We believe that repeated ultrasonic examination of the kidneys in patients with renal-ARF is useful for not only differential diagnosis of post-renal urinary obstruction but evaluating the course of ARF.